Brooke-Spiegler Syndrome
| Autor: | Mostafa Mirshams Shahshahani, Maedeh Rayati Damavandi, Kambiz Kamyab, Gholam-Reza Maghsoudnia, Zeinab Aryianian |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: | |
| Zdroj: | Basic & Clinical Cancer Research, Vol 3, Iss 1 (2011) |
| Druh dokumentu: | article |
| ISSN: | 2228-6527 2228-5466 |
| Popis: | Introduction: Brooke-Spiegler Syndrome (BSS) is a rare autosomal dominant disease characterized by the development of multiple adnexal cutaneous tumors such as cylindromas, trichoepitheliomas and spiradenomas. Case Description: A 49 years old female patient presented with a history of gradual appearance of multiple nodules situated predominantly on the scalp and face. Pathologic examination of lesions revealed cylindroma with foci of spiradenoma. Discussion: Brooke-Spiegler Syndrome (BSS) caused by various mutations of the cylindromatosis gene (CYLD), a tumor suppressor gene resulting in multiple cylindromas and trichoepitheliomas. Malignant transformation may develop within solitary cylindromas, but more common in multiple variant and requires careful followup surveillance. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|